Genetics

Question 1

Who is this Archibald Edward Garrod character?

Answer 1

English physician who pioneers the field of inborn errors of metabolism

Question 2

What is the major Australian genetic disease?

Answer 2

cystic fibrosis

Question 3

What was the first genetic disease to be routinely tested for at birth?

Answer 3

Phenylketonuria (PKU)

Question 4

One protein can only have one mutation?

Answer 4

Nope. many mutations possible

Question 5

Types of single gene disorders?

Answer 5

Autosomal dominant 
autosomal recessive 
X-linked dominant 
X-linked recessive 
Y-linked
Mitochondrial

Question 6

What is the PCR technique used for genetic testing?

Answer 6

Gene amplification

Question 7

What’s the self mutilation condition called?

Answer 7

Lesch-Nyhan syndrome

Question 8

What’s the collagen defect gene called?

Answer 8

Ehlers Danlos syndrome

Question 9

What did Archibald Edward Garrod describe in 1902?

Answer 9

Alkaptouria (Dark urine after air exposure)

Question 10

Common Trisomies?

Answer 10

21 = downs
18
13 = cyclops
XXY Klinefelter’s

Question 11

Red green colour blindness is X-linked_____

Answer 11

Recessive

Question 12

Blue Yellow colour blindness is autosomal______

Answer 12

dominant

Question 13

What do these all have in common?
Hemophilia A 
Duchenne muscular dystrophy 
Lesch Nyhan syndrome
male patter baldness

Answer 13

All X-linked recessive conditions

Question 14

What’s Mendel’s first law?

Answer 14

Parents have two copies of the gene for a character

Question 15

What is Mendel’s second law?

Answer 15

Different characters are inherited independently

Question 16

Do congenital abnormalities have to have a genetic basis?

Answer 16

Nope. could be a teratogen

Question 17

What is Ehlers Danlos syndrome?

Answer 17

collagen defect gene

Question 18

Lesch-Nyhan syndrome?

Answer 18

self mutilation one

Question 19

PKU is a lack what?

Answer 19

lack of enzyme that breaks down PKU, builds up and damages brain.

Question 20

What does a build up of PKU inhibit?

Answer 20

Tyrosinase which makes melanin, so you get blond hair from dark haired parents

Question 21

What’s the prevention of PKU?

Answer 21

Low phenylalanine diet?

Question 22

What first disease was associated with the Guthrie heel prick test?

Answer 22

PKU prevention

Question 23

CF incidence?

Answer 23

1 in 2500

Question 24

CF affects lungs, what else?

Answer 24

pancreas/liver/reproductive

Question 25

What is the product of the CF gene?

Answer 25

Cystic Fibrosis Transmembrane conductance Regulator

Question 26

What does Cystic Fibrosis Transmembrane conductance Regulator do?

Answer 26

Chloride channel protein in certain mucous membranes that help to clear mucous in lungs and other areas

Question 27

What does the Guthrie heel prick test detect in regards to possible CF babies?

Answer 27

IRT (immunoreactive trypsin) via pancreas

Question 28

The diagnosis of cystic fibrosis confirmed?

Answer 28

Excessive NaCl in sweat

Question 29

What kind of helix is collagen? Where are the glycines?

Answer 29

triple helix with glycines stacked in the centre

Question 30

What does kinked collagen in bone present as?

Answer 30

osteogenesis imperfecta

Question 31

Is Ehler Danlos syndrom Autosomal recessive?

Answer 31

Nope. Autosomal dominant

Question 32

Why was Niccolo Paganini so special?

Answer 32

Violinist with Marfan’s syndrome, long extremities, could span the whole finger board, defect in Fibrillin 1 gene

Question 33

What’s defective in Albinism?

Answer 33

Tyrosinase, which leads to no melanin

Question 34

Two examples of polygenic inheritance?

Answer 34

Skin colour

obesity

Question 35

What kind of mutation occurs in sickle cell anemia?

Answer 35

point mutation of valine instead of glutamic acid

Question 36

If you fluoresce plasma from someone with porphyria will Color be red or blue?

Answer 36

red